SNP Links for Protein (Select 238231397) - SNP

Links from Protein

Items: 1 to 20 of 205

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Select item 14830027001.

rs1483002700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46923348 (GRCh38)
3:46964838 (GRCh37)
Canonical SPDI:: NC_000003.12:46923347:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000003.12:g.46923348C>T, NC_000003.11:g.46964838C>T, NM_144716.6:c.361G>A, NM_144716.5:c.361G>A, NR_102269.2:n.375G>A, NR_102269.1:n.375G>A, NM_001277074.2:c.322G>A, NM_001277074.1:c.322G>A, NP_653317.2:p.Ala121Thr, NP_001264003.1:p.Ala108Thr

Select item 14772215182.

rs1477221518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46976720 (GRCh38)
3:47018210 (GRCh37)
Canonical SPDI:: NC_000003.12:46976719:T:C
Gene:: CCDC12 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000344/1 (KOREAN)
HGVS:: NC_000003.12:g.46976720T>C, NC_000003.11:g.47018210T>C, NG_031914.1:g.2038T>C, NM_144716.6:c.52A>G, NM_144716.5:c.52A>G, NM_001277074.2:c.13A>G, NM_001277074.1:c.13A>G, NP_653317.2:p.Thr18Ala, NP_001264003.1:p.Thr5Ala

Select item 14650167373.

rs1465016737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46941035 (GRCh38)
3:46982525 (GRCh37)
Canonical SPDI:: NC_000003.12:46941034:G:A
Gene:: CCDC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46941035G>A, NC_000003.11:g.46982525G>A, NM_144716.6:c.166C>T, NM_144716.5:c.166C>T, NR_102269.2:n.180C>T, NR_102269.1:n.180C>T, NM_001277074.2:c.127C>T, NM_001277074.1:c.127C>T, NP_653317.2:p.His56Tyr, NP_001264003.1:p.His43Tyr

Select item 14634601334.

rs1463460133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:46941012 (GRCh38)
3:46982502 (GRCh37)
Canonical SPDI:: NC_000003.12:46941011:T:G
Gene:: CCDC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.46941012T>G, NC_000003.11:g.46982502T>G, NM_144716.6:c.189A>C, NM_144716.5:c.189A>C, NR_102269.2:n.203A>C, NR_102269.1:n.203A>C, NM_001277074.2:c.150A>C, NM_001277074.1:c.150A>C, NP_653317.2:p.Glu63Asp, NP_001264003.1:p.Glu50Asp

Select item 14631283035.

rs1463128303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:46923657 (GRCh38)
3:46965147 (GRCh37)
Canonical SPDI:: NC_000003.12:46923656:C:A,NC_000003.12:46923656:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46923657C>A, NC_000003.12:g.46923657C>T, NC_000003.11:g.46965147C>A, NC_000003.11:g.46965147C>T, NM_144716.6:c.295G>T, NM_144716.6:c.295G>A, NM_144716.5:c.295G>T, NM_144716.5:c.295G>A, NR_102269.2:n.309G>T, NR_102269.2:n.309G>A, NR_102269.1:n.309G>T, NR_102269.1:n.309G>A, NM_001277074.2:c.256G>T, NM_001277074.2:c.256G>A, NM_001277074.1:c.256G>T, NM_001277074.1:c.256G>A, NP_653317.2:p.Val99Leu, NP_653317.2:p.Val99Met, NP_001264003.1:p.Val86Leu, NP_001264003.1:p.Val86Met

Select item 14624589496.

rs1462458949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46922278 (GRCh38)
3:46963768 (GRCh37)
Canonical SPDI:: NC_000003.12:46922277:T:C
Gene:: CCDC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46922278T>C, NC_000003.11:g.46963768T>C, NM_144716.6:c.415A>G, NM_144716.5:c.415A>G, NR_102269.2:n.429A>G, NR_102269.1:n.429A>G, NM_001277074.2:c.376A>G, NM_001277074.1:c.376A>G, NP_653317.2:p.Lys139Glu, NP_001264003.1:p.Lys126Glu

Select item 14578925567.

rs1457892556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46976643 (GRCh38)
3:47018133 (GRCh37)
Canonical SPDI:: NC_000003.12:46976642:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46976643C>T, NC_000003.11:g.47018133C>T, NG_031914.1:g.1961C>T, NM_144716.6:c.129G>A, NM_144716.5:c.129G>A, NM_001277074.2:c.90G>A, NM_001277074.1:c.90G>A

Select item 14545768058.

rs1454576805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:46922114 (GRCh38)
3:46963604 (GRCh37)
Canonical SPDI:: NC_000003.12:46922113:G:T
Gene:: CCDC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46922114G>T, NC_000003.11:g.46963604G>T, NM_144716.6:c.483C>A, NM_144716.5:c.483C>A, NR_102269.2:n.497C>A, NR_102269.1:n.497C>A, NM_001277074.2:c.444C>A, NM_001277074.1:c.444C>A, NP_653317.2:p.Asp161Glu, NP_001264003.1:p.Asp148Glu

Select item 14513411729.

rs1451341172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46976696 (GRCh38)
3:47018186 (GRCh37)
Canonical SPDI:: NC_000003.12:46976695:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46976696C>T, NC_000003.11:g.47018186C>T, NG_031914.1:g.2014C>T, NM_144716.6:c.76G>A, NM_144716.5:c.76G>A, NM_001277074.2:c.37G>A, NM_001277074.1:c.37G>A, NP_653317.2:p.Glu26Lys, NP_001264003.1:p.Glu13Lys

Select item 145029267410.

rs1450292674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46976647 (GRCh38)
3:47018137 (GRCh37)
Canonical SPDI:: NC_000003.12:46976646:G:A
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.46976647G>A, NC_000003.11:g.47018137G>A, NG_031914.1:g.1965G>A, NM_144716.6:c.125C>T, NM_144716.5:c.125C>T, NM_001277074.2:c.86C>T, NM_001277074.1:c.86C>T, NP_653317.2:p.Thr42Ile, NP_001264003.1:p.Thr29Ile

Select item 144746460111.

rs1447464601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46941018 (GRCh38)
3:46982508 (GRCh37)
Canonical SPDI:: NC_000003.12:46941017:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46941018C>T, NC_000003.11:g.46982508C>T, NM_144716.6:c.183G>A, NM_144716.5:c.183G>A, NR_102269.2:n.197G>A, NR_102269.1:n.197G>A, NM_001277074.2:c.144G>A, NM_001277074.1:c.144G>A

Select item 144230769012.

rs1442307690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46923346 (GRCh38)
3:46964836 (GRCh37)
Canonical SPDI:: NC_000003.12:46923345:A:G
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.46923346A>G, NC_000003.11:g.46964836A>G, NM_144716.6:c.363T>C, NM_144716.5:c.363T>C, NR_102269.2:n.377T>C, NR_102269.1:n.377T>C, NM_001277074.2:c.324T>C, NM_001277074.1:c.324T>C

Select item 143778571913.

rs1437785719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46925496 (GRCh38)
3:46966986 (GRCh37)
Canonical SPDI:: NC_000003.12:46925495:G:C
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46925496G>C, NC_000003.11:g.46966986G>C, NM_144716.6:c.243C>G, NM_144716.5:c.243C>G, NR_102269.2:n.257C>G, NR_102269.1:n.257C>G, NM_001277074.2:c.204C>G, NM_001277074.1:c.204C>G, NP_653317.2:p.Asp81Glu, NP_001264003.1:p.Asp68Glu

Select item 143503295414.

rs1435032954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46976651 (GRCh38)
3:47018141 (GRCh37)
Canonical SPDI:: NC_000003.12:46976650:T:C
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000003.12:g.46976651T>C, NC_000003.11:g.47018141T>C, NG_031914.1:g.1969T>C, NM_144716.6:c.121A>G, NM_144716.5:c.121A>G, NM_001277074.2:c.82A>G, NM_001277074.1:c.82A>G, NP_653317.2:p.Lys41Glu, NP_001264003.1:p.Lys28Glu

Select item 143001066415.

rs1430010664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46976744 (GRCh38)
3:47018234 (GRCh37)
Canonical SPDI:: NC_000003.12:46976743:A:G
Gene:: CCDC12 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46976744A>G, NC_000003.11:g.47018234A>G, NG_031914.1:g.2062A>G, NM_144716.6:c.28T>C, NM_144716.5:c.28T>C, NM_001277074.2:c.-12T>C, NM_001277074.1:c.-12T>C, NP_653317.2:p.Tyr10His

Select item 142557202216.

rs1425572022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46976732 (GRCh38)
3:47018222 (GRCh37)
Canonical SPDI:: NC_000003.12:46976731:T:A
Gene:: CCDC12 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,initiator_codon_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.46976732T>A, NC_000003.11:g.47018222T>A, NG_031914.1:g.2050T>A, NM_144716.6:c.40A>T, NM_144716.5:c.40A>T, NM_001277074.2:c.1A>T, NM_001277074.1:c.1A>T, NP_653317.2:p.Met14Leu, NP_001264003.1:p.Met1Leu

Select item 142388870717.

rs1423888707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:46976737 (GRCh38)
3:47018227 (GRCh37)
Canonical SPDI:: NC_000003.12:46976736:C:A
Gene:: CCDC12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.46976737C>A, NC_000003.11:g.47018227C>A, NG_031914.1:g.2055C>A, NM_144716.6:c.35G>T, NM_144716.5:c.35G>T, NM_001277074.2:c.-5G>T, NM_001277074.1:c.-5G>T, NP_653317.2:p.Gly12Val

Select item 141983381318.

rs1419833813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:46925484 (GRCh38)
3:46966974 (GRCh37)
Canonical SPDI:: NC_000003.12:46925483:C:G
Gene:: CCDC12 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46925484C>G, NC_000003.11:g.46966974C>G, NM_144716.6:c.255G>C, NM_144716.5:c.255G>C, NR_102269.2:n.269G>C, NR_102269.1:n.269G>C, NM_001277074.2:c.216G>C, NM_001277074.1:c.216G>C, NP_653317.2:p.Arg85Ser, NP_001264003.1:p.Arg72Ser

Select item 140702598219.

rs1407025982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46976698 (GRCh38)
3:47018188 (GRCh37)
Canonical SPDI:: NC_000003.12:46976697:T:A
Gene:: CCDC12 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.46976698T>A, NC_000003.11:g.47018188T>A, NG_031914.1:g.2016T>A, NM_144716.6:c.74A>T, NM_144716.5:c.74A>T, NM_001277074.2:c.35A>T, NM_001277074.1:c.35A>T, NP_653317.2:p.Glu25Val, NP_001264003.1:p.Glu12Val

Select item 139120408920.

rs1391204089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:46976708 (GRCh38)
3:47018198 (GRCh37)
Canonical SPDI:: NC_000003.12:46976707:C:G,NC_000003.12:46976707:C:T
Gene:: CCDC12 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000022/5 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46976708C>G, NC_000003.12:g.46976708C>T, NC_000003.11:g.47018198C>G, NC_000003.11:g.47018198C>T, NG_031914.1:g.2026C>G, NG_031914.1:g.2026C>T, NM_144716.6:c.64G>C, NM_144716.6:c.64G>A, NM_144716.5:c.64G>C, NM_144716.5:c.64G>A, NM_001277074.2:c.25G>C, NM_001277074.2:c.25G>A, NM_001277074.1:c.25G>C, NM_001277074.1:c.25G>A, NP_653317.2:p.Gly22Arg, NP_653317.2:p.Gly22Ser, NP_001264003.1:p.Gly9Arg, NP_001264003.1:p.Gly9Ser

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